Variant report

Variant	rs1149860
Chromosome Location	chr13:50908951-50908952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50907927..50911991-chr13:50914729..50916836,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1149851	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1149852	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1149853	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1149857	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1149859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1149866	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1149870	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1262862	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1262863	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1262864	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1262867	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1269266	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269268	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1269269	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1269274	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1269276	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1269278	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1269281	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1319883	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1326128	0.88[ASN][1000 genomes]
rs1886200	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1924370	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532964	0.83[EUR][1000 genomes]
rs2762042	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2762043	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2762046	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2762048	0.93[ASN][1000 genomes]
rs2762065	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2762066	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2812213	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812215	0.83[EUR][1000 genomes]
rs4340216	0.83[ASN][1000 genomes]
rs752213	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs806303	0.83[EUR][1000 genomes]
rs806311	0.88[ASN][1000 genomes]
rs806312	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv561632	chr13:50874346-50912578	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50907000-50910600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:50907600-50909200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:50907800-50909800	Enhancers	HepG2	liver
4	chr13:50908000-50909000	Enhancers	Fetal Thymus	thymus
5	chr13:50908200-50910000	Enhancers	HUVEC	blood vessel
6	chr13:50908400-50909600	Enhancers	Fetal Stomach	stomach
7	chr13:50908400-50909800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:50908400-50909800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr13:50908600-50909000	Enhancers	Lung	lung
10	chr13:50908600-50909200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:50908600-50909200	Enhancers	Gastric	stomach
12	chr13:50908600-50909400	Enhancers	Primary hematopoietic stem cells	blood
13	chr13:50908600-50909400	Enhancers	Fetal Kidney	kidney
14	chr13:50908600-50909400	Enhancers	Placenta	Placenta
15	chr13:50908600-50909400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr13:50908600-50909600	Enhancers	Fetal Intestine Large	intestine
17	chr13:50908600-50909600	Enhancers	Fetal Lung	lung
18	chr13:50908600-50909800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:50908600-50911200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:50908800-50909400	Enhancers	Fetal Intestine Small	intestine
21	chr13:50908800-50909600	Flanking Active TSS	K562	blood
22	chr13:50908800-50913800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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